
25
Experimental finding Traditional
Diagnostics
Exome
Rate of diagnosis 11% 55%
Average cost per
patient
$27,040 $6,003
Patients with improved
care outcomes
4% 16%
Melbourne Genomics study: an
Internationally-Recognised
Real-World Case-Study
“It is a game changer, both in terms of patient outcomes and economic sustainability.”
Backgroun
d
• Childhood syndromes patients (101
children).
• Royal Children’s Hospital Melbourne.
• Patients received both:
A. Traditional diagnostic tests.
B. Exome Test.
Numbers
Take-
Home
Messages
When Exome Seq was used:
• Five times more patients were
diagnosed.
• The cost per patient was reduced by
75%.
• Four times more patients had
improved care
NB. No patients required novel expensive
treatments.
Implication
s
Exomes as a diagnostic test:
• Provides spectacular diagnostic
power.
• Significantly reduces average patient
costs.
• Improves critical management care.
Five times the diagnosis at one quarter
the cost